Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Kushani Jayasinghe; Erik Biros; Trudie Harris; Alasdair Wood; Rosie O'Shea; Lauren Hill; Lindsay Fowles; Louise Wardrop; Carolyn Shalhoub; Deirdre Hahn; Gopala Rangan; Lucy Kevin; Michel Tchan; Paul Snelling; Rhiannon Sandow; Madhivan Sundaram; Swasti Chaturvedi; Peter Trnka; Randall Faull; Nicola K Poplawski; Vanessa Huntley; Denisse Garza; Mathew Wallis; Matthew Jose; Anna Leaver; Alison H Trainer; Ella J Wilkins; Sue White; Yoni Elbaum; Yael Prawer; Emma Krzesinski; Giulia Valente; Ingrid Winship; Jessica Ryan; John Whitlam; Kathy Nicholls; Kirsty West; Liz Donaldson; Lilian Johnstone; Miranda Lewit-Mendes; Peter G Kerr; Simon Bodek; Aron Chakera; Mandi MacShane; Christine Mincham; Elaine Stackpoole; Francis Willis; Jacqueline Soraru; Nick Pachter; Bruce Bennetts; Thomas A Forbes; Amali Mallawaarachchi; Catherine Quinlan; Chirag Patel; Hugh McCarthy; Illias Goranitis; Stephanie Best; Stephen Alexander; Zornitza Stark; Andrew J Mallett

doi:10.1016/j.ekir.2024.04.068

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years

Kidney Int Rep. 2024 May 9;9(8):2372-2385. doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug.

Authors

Kushani Jayasinghe^{1

2

3

4}, Erik Biros^{3

5

6}, Trudie Harris^{3

6}, Alasdair Wood³, Rosie O'Shea³, Lauren Hill³, Lindsay Fowles⁷, Louise Wardrop³, Carolyn Shalhoub^{8

9}, Deirdre Hahn¹⁰, Gopala Rangan^{11

12}, Lucy Kevin¹⁰, Michel Tchan¹¹, Paul Snelling¹³, Rhiannon Sandow¹³, Madhivan Sundaram¹⁴, Swasti Chaturvedi¹⁴, Peter Trnka¹⁵, Randall Faull¹⁶, Nicola K Poplawski^{16

17}, Vanessa Huntley¹⁶, Denisse Garza¹⁸, Mathew Wallis¹⁸, Matthew Jose¹⁸, Anna Leaver¹⁹, Alison H Trainer^{20

21

22}, Ella J Wilkins^{3

4

23

24}, Sue White²³, Yoni Elbaum²³, Yael Prawer^{25

26

27}, Emma Krzesinski^{25

26

27}, Giulia Valente¹⁹, Ingrid Winship²⁰, Jessica Ryan²⁵, John Whitlam¹⁹, Kathy Nicholls²⁰, Kirsty West²⁰, Liz Donaldson²⁰, Lilian Johnstone^{25

28}, Miranda Lewit-Mendes²⁵, Peter G Kerr²⁵, Simon Bodek¹⁹, Aron Chakera²⁹, Mandi MacShane²⁹, Christine Mincham³⁰, Elaine Stackpoole^{29

30

31}, Francis Willis³⁰, Jacqueline Soraru³¹, Nick Pachter³¹, Bruce Bennetts^{32

33}, Thomas A Forbes^{4

24

34

35}, Amali Mallawaarachchi^{4

36

37}, Catherine Quinlan^{4

24

34

35

38}, Chirag Patel^{4

39}, Hugh McCarthy^{40

41

42}, Illias Goranitis^{3

43

44}, Stephanie Best^{3

21

45

46}, Stephen Alexander^{40

42}, Zornitza Stark^{4

24

47}, Andrew J Mallett^{3

4

5

6

48

49}

Affiliations

¹ Department of Nephrology, Monash Medical Centre, Melbourne, Victoria, Australia.
² School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.
³ Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
⁴ The KidGen Collaborative, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
⁵ College of Medicine and Dentistry, James Cook University, Townsville, Queensland, Australia.
⁶ Townsville University Hospital, Townsville, Queensland, Australia.
⁷ Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁸ Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
⁹ School of Clinical Medicine, UNSW Medicine and Health, Randwick Clinical Campus, Sydney, New South Wales, Australia.
¹⁰ The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
¹¹ Westmead Hospital, Sydney, New South Wales, Australia.
¹² Michael Stern Laboratory for Polycystic Kidney Disease, Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
¹³ The Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
¹⁴ Royal Darwin Hospital, Darwin, Northern Territory, Australia.
¹⁵ Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹⁶ Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁷ Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁸ Royal Hobart Hospital, Hobart, Tasmania, Australia.
¹⁹ Austin Hospital, Melbourne, Victoria, Australia.
²⁰ Royal Melbourne Hospital, Melbourne, Victoria, Australia.
²¹ Department of Oncology, Sir Peter MacCallum Cancer Centre, University of Melbourne, Melbourne, Victoria, Australia.
²² Department of Medicine, University of Melbourne, Victoria, Australia.
²³ Royal Children's Hospital, Melbourne, Victoria, Australia.
²⁴ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
²⁵ Monash Health, Melbourne, Victoria, Australia.
²⁶ Monash Genetics, Monash Health, Melbourne, Victoria, Australia.
²⁷ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
²⁸ Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
²⁹ Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
³⁰ Perth Children's Hospital, Perth, Western Australia, Australia.
³¹ Fiona Stanley Hospital Perth, Western Australia, Australia.
³² Department of Molecular Genetics, Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
³³ Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
³⁴ Department of Nephrology, Royal Children's Hospital, Melbourne, Victoria, Australia.
³⁵ Kidney Regeneration, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
³⁶ Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
³⁷ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
³⁸ Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia.
³⁹ Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴⁰ Centre for Kidney Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴¹ Department of Nephrology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁴² Department of Nephrology, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.
⁴³ Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
⁴⁴ Australian Genomics, Melbourne, Victoria, Australia.
⁴⁵ Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
⁴⁶ Victorian Comprehensive Cancer Centre Alliance, Melbourne, Victoria, Australia.
⁴⁷ Victorian Clinical Genetics Services, Melbourne, Victoria, Australia.
⁴⁸ Kidney Health Service, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
⁴⁹ Institute for Molecular Bioscience and Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

Abstract

Introduction: Diagnostic genomic sequencing is the emerging standard of care in nephrology. There is a growing need to scale up the implementation of genomic diagnostics nationally to improve patient outcomes.

Methods: This pragmatic study provided genomic or genetic testing to patients with suspected monogenic kidney disease through a national network of kidney genetics clinics (KGCs). We sought to evaluate the experiences of implementing genomic diagnostics across Australia and associated diagnostic outcomes between 2013 and 2022.

Results: We successfully established and expanded a nationwide network of 20 clinics as of 2022; concurrently developing laboratory, research, and education programs to scale the clinical application of genomics in nephrology. We report on an Australian cohort of 1506 kidney patients, of whom 1322 received their test results. We assessed barriers to implementation in the nephrology context, and where possible, applied real-time solutions to improve clinical processes over 10 years.

Conclusion: Developing a multidisciplinary kidney genetics model across multiple health services nationally was highly successful. This model supported optimal care of individuals with monogenic kidney disease in an economically responsible way. It has continued to evolve with technological and service developments and is now set to scale further as genomic testing for kidney patients transitions to health care system funding.

Keywords: genomic testing; implementation; kidney disease.